What is Patau Syndrome? Patau syndrome, also known as 'Trisomy 13,' is a form of genetic disorder in which all or a portion of the person's chromosome thirteen appears three times instead of twice in the cells of their body. In some people who are affected by the syndrome, only a percentage of the cells may contain the extra thirteenth chromosome, referred to as 'mosaicism'. The extra material interferes with the person's regular process of development, which leads to severe intellectual disability
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Developmental Disorders Autism spectrum disorder (ASD) Diagnosis The first diagnosed case of ASD was in 1938 by American psychiatrist Leo Kanner. A diagnosis of ASD can be made accurately before the child is 3 years old but the diagnosis of ASD is not commonly confirmed until the child is somewhat older. The ages of diagnosis can range from 9 months to 14 years however the mean age of diagnosis is 13 months. On average each case of ASD is tested at 3 different diagnostic centers before
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All the intellectually disabled have one thing in common which is the disability they have. However, they differ in every other aspect. The main characteristics of the intellectually disabled fall under 5 criterias which are: Physical characteristics ◾An underdevelopment in physical growth ◾Average weight and height usually less than normal peers of the same chronological age ◾Physical deformation ◾Retarded movement and balance Mental characteristics ◾Less-than-average I.Q. ◾Underdeveloped
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1(a) Down syndrome (b) Down syndrome have varying degrees of intellectual disability characteristic facial features and, often heart defects and other problems. (c) Down syndromes varies positively with the age of the parents: older parents are more likely to bear children with the syndrome. 2.Yes. To look at the baby chromosomes. 3. (a) He perform a detailed ultrasound(b) The baby is in a Breech position. 4.Down syndrome and Spina bifida 5. Risk of a woman having a baby with down syndrome. Risk
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impairment that substantially limits one or more major life activities (like walking, standing, or breathing). Examples include individuals who have physical conditions such as epilepsy, diabetes, severe forms of arthritis, hypertension, or carpal tunnel syndrome, as well as individuals with mental impairments such as major depression, bipolar (manic-depressive) disorder, and mental retardation. An individual with a disability must be able to perform the essential functions of the job, with or without an
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Cat eye syndrome is a genetic condition , a way to describe it is to say that it is an abnormality in chromosome 22. It can lead to a coloboma of the iris witch is how it got its name . The eyes look cat-like but work the same as a normal human . Cat eye syndrome or “Schmid Fraccaro syndrome” is a rare condition caused by the short arm and a small section of the long arm of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times. The name
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that teachers may encounter I have found are ADHD (Attention Deficit hyperactivity Disorder), Angel man syndrome, Aspersers Syndrome, Autism, Cri Du Char, Down Syndrome, Dysphasia, Dyspraxia, Epilepsy, Fragile X, Klinefelter Syndrome, Pervasive Developmental Disorder, Prader-willi Syndrome, Rett Syndrome, Trismoy, Soto’s Syndrome, Tourette Syndrome, Tuberous Sclerosis, and Williams Syndrome. (Activ, 2001) References Activ (2001) Types of Intellectual Disabilities. Retrieved on July 13, 2001
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To the parents of Madison Rigby, Congratulations on your new member of your family. Your baby has recently been diagnosed with Velocardiofacial syndrome. It is also commonly called DiGeorge syndrome or Deletion syndrome. It is caused by a deletion of chromosome 22q11 or chromosome 22. It happens when a small piece of genetic material is missing. Because there is a copy of this chromosome from each parent something could've gone wrong in the sperm cell or egg cell. It is completely random. Some
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child not achieving developmental milestone at the normal age range. There are five developmental delays, gross motor, fine motor, language, cognitive and social. Genetic plays a factors in some developmental delays such as Down syndrome, Fragile X syndrome, rett syndrome, and muscular dystrophy. These multiple delays influence physical, and social developments. An example of a delay could be if the child was born prematurely, or if the mother had an infections like chlamydia and passed it to
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Cri du chat, also known as “Cat’s Cry” syndrome or 5p- (5 p minus) syndrome occurs when there is a deletion in chromosome 5 (Genetics Home Reference). According to the Genetics Home Reference website, most cases of Cri du Chat are not inherited. The deletion occurs randomly during production of reproductive cells or in early development. People with Cri du Chat most often have no familial history of the disease. Only about ten percent of the cases of Cri du Chat are inherited from unaffected parents
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